Hydrocortisone Therapy in Post-Stroke Management of Persistent Hiccups: A Case Report.

Hiccups, also known as singultus, are involuntary spasms of the diaphragm muscle followed by laryngeal closure involving a reflex arc. It is a relatively common phenomenon, usually transient and self-limiting. However, in medical settings, it could be much more serious and is often a sign of underlying pathology. When hiccups last for over 48 hours, they are referred to as persistent hiccups, and if they persist for more than a month, they are known as intractable hiccups. Current pharmacologic treatment of persistent or intractable hiccups mainly includes antidopaminergic drugs, which specifically antagonize the dopamine D2 receptor. Here, we present the case of a 54-year-old gentleman who was admitted under our care with a posterior circulation stroke specifically affecting the medulla. He was symptomatic with severe, persistent hiccups interfering with sleep and oral intake and unresponsive to all standard medications. After nearly two weeks, a trial of hydrocortisone was given, to which he responded dramatically. To the best of our knowledge, this is the only case of hiccups that has been successfully treated with hydrocortisone. The remarkable improvement seen in our patient when treated with hydrocortisone suggests hydrocortisone could be a useful agent in post-stroke hiccups that are unresponsive to traditional treatment for hiccups.

How POCUS picks up a rare mimickers of acute appendicitis in the emergency department.

BACKGROUND: Appendicitis is the most common surgical abdominal emergency. Punctual diagnosis and rapid operative treatment of acute appendicitis are critically important, as it reduces the risk of complications, associated with greater morbidity and cost of care. The clinical diagnosis of acute appendicitis can be difficult and confusing. Due to some typical presentation and mimic, several abdominal conditions are left undiagnosed. POCUS has comparatively acceptable sensitivity and high specificity for diagnosing acute appendicitis, and early practice POCUS has a standalone test to rule out acute appendicitis. CASE PRESENTATION: A 43-year-old man presented with a 3-day history of abdominal pain rated 5/10 in intensity which had localized to the right iliac fossa by the time he attended our emergency. He described the acute pain as sharp in nature, colicky without the presence of any radiation. The pain was associated with nausea, but there was no vomiting. On clinical examination, the patient was stable at first, had a normal temperature with tenderness and guarding the right iliac fossa under nearby normal laboratory investigation. CONCLUSION: The importance of POCUS in scanning right iliac fossa for patients present with signs and symptoms that are mimicking acute appendicitis for diagnosing a rare pathology and avoiding the risk of ionizing radiation hazards and unnecessary surgical intervention.

Introducing the first whole genomes of nationals from the United Arab Emirates.

Whole Genome Sequencing (WGS) provides an in depth description of genome variation. In the era of large-scale population genome projects, the assembly of ethnic-specific genomes combined with mapping human reference genomes of underrepresented populations has improved the understanding of human diversity and disease associations. In this study, for the first time, whole genome sequences of two nationals of the United Arab Emirates (UAE) at >27X coverage are reported. The two Emirati individuals were predominantly of Central/South Asian ancestry. An in-house customized pipeline using BWA, Picard followed by the GATK tools to map the raw data from whole genome sequences of both individuals was used. A total of 3,994,521 variants (3,350,574 Single Nucleotide Polymorphisms (SNPs) and 643,947 indels) were identified for the first individual, the UAE S001 sample. A similar number of variants, 4,031,580 (3,373,501 SNPs and 658,079 indels), were identified for UAE S002. Variants that are associated with diabetes, hypertension, increased cholesterol levels, and obesity were also identified in these individuals. These Whole Genome Sequences has provided a starting point for constructing a UAE reference panel which will lead to improvements in the delivery of precision medicine, quality of life for affected individuals and a reduction in healthcare costs. The information compiled will likely lead to the identification of target genes that could potentially lead to the development of novel therapeutic modalities.

A 1000 Arab genome project to study the Emirati population.

Discoveries from the human genome, HapMap, and 1000 genome projects have collectively contributed toward the creation of a catalog of human genetic variations that has improved our understanding of human diversity. Despite the collegial nature of many of these genome study consortiums, which has led to the cataloging of genetic variations of different ethnic groups from around the world, genome data on the Arab population remains overwhelmingly underrepresented. The National Arab Genome project in the United Arab Emirates (UAE) aims to address this deficiency by using Next Generation Sequencing (NGS) technology to provide data to improve our understanding of the Arab genome and catalog variants that are unique to the Arab population of the UAE. The project was conceived to shed light on the similarities and differences between the Arab genome and those of the other ethnic groups.

Ovarian tumors associated with pregnancy: a 20-year experience in a teaching hospital.

OBJECTIVE: Pregnancy associated with ovarian tumors was reviewed over a 20-year period to determine the maternal and fetal outcome in patients undergoing surgery during pregnancy. METHOD: A retrospective study of 94 cases of ovarian tumors treated surgically during pregnancy was investigated for incidence, clinico-pathological features and outcome in a teaching hospital between June 1987 and May 2007. RESULTS: The overall incidence of ovarian tumor in pregnant women was 1 in 505 (0.2%) deliveries. Diagnosis of 69.2% tumors resulted in the first and second trimesters of pregnancy. Twenty-two (23.4%) patients presented as an emergency at different periods of gestation and 16 (17.1%) tumors were incidentally discovered at cesarean section which underlines the significance of examining the ovaries routinely at cesarean section. Benign teratoma (39.4%) and serous cystadenoma (24.5%) were the most common types of ovarian tumors found in the study. The incidence of malignant tumors was 5.3%. Tumors with low malignant potential comprised 40% of malignancy. The miscarriage rate after surgery was 44.4% in the first trimester compared with 16.6% in the second trimester. The preterm birth rate was 4.3% in the series. CONCLUSION: The value of clinical and ultrasound examinations in early pregnancy as a diagnostic aid is highlighted. Whenever an ovarian tumor is detected in pregnancy, malignancy should always be suspected. Treatment of an ovarian tumor in pregnancy should be tailored according to the age, parity, clinical presentation, gestational age and histopathology of the tumor. Removal of persisting or enlarging ovarian masses as soon as possible is important to obtain a final histologic diagnosis and rule out malignancy. Early diagnosis and appropriate treatment of malignant tumors offers the best prognosis for the patient.

Vitamin D deficiency in healthy children in a sunny country: associated factors.

OBJECTIVE: The objective of the present study was to determine the factors associated with low concentrations of 25-hydroxy vitamin D (vitamin D deficiency) in healthy children in Qatar. DESIGN: The survey was a cross-sectional study conducted at the Primary Health Care Clinics over the period from August 2007 to March 2008. Subjects The study was carried out among healthy Qatari nationals, male and female, aged below 16 years. A random sample of 650 healthy subjects who visited the Primary Health Care Centers for any reason other than acute or chronic disease were approached and 458 subjects gave consent; a response rate of 70.5%. METHODS: Face-to-face interviews were based on a questionnaire that included variables such as socio-demographic information, assessment of non-dietary covariates, assessment of dietary intake, vitamin D intake, type of feeding, clinical manifestations and laboratory investigations. The subjects' health status was assessed by medical conditions, family history, body mass index, past or present clinical manifestations, 25-hydroxy vitamin D, calcium, alkaline phosphates, phosphorus, HbA1C, Parathyroid Hormone (PTH), magnesium and creatinine analysis. RESULTS: The study revealed that vitamin D deficiency was highly prevalent in Qatari adolescents (11-16 years old; 61.6%), followed by the 5-10 year olds (28.9%) and those below 5 years old (9.5%). Vitamin D deficiency increased with age and there was a significant difference between vitamin D-deficient and normal children in their age groups (P =0.013). The body mass index was significantly lower in vitamin D-deficient children (19.6+/-3.6; P =0.019). A family history of vitamin D deficiency was more frequent in children with vitamin D deficiency (33.7%) than in normal children (24.5%). Most of the vitamin D-deficient children had no physical activity (60.6%) and no exposure to sunlight (57.5%). There was a significant difference between both groups in terms of family history of vitamin D deficiency, physical activity, exposure to sunlight and duration of time spent outside under the sun (P <0.05). The mean values of vitamin D serum concentration, calcium, alkaline phosphates, and phosphorus were very low in vitamin D-deficient children. Vitamin D-deficient children had a very poor diet for vitamin D (cod liver oil, 56.5%; milk fortified with vitamin D, 27.3%; fortified food, 24.1%; and seafood, 5.7%) compared with normal children. Fractures (P =0.006), delayed milestones (P =0.013), rickets (P =0.017) and gastroenteritis (P =0.020) were significantly higher in vitamin D-deficient children. CONCLUSION: The study findings revealed that Qatari children are at high risk for vitamin D deficiency. Lack of exposure to sunlight, outdoor activities under the sun, and physical activity and vitamin D intake are the main associated factors for vitamin D deficiency in the young population of Qatar. Breast-fed infants need to take vitamin D supplements for a longer period.

High prevalence of vitamin D deficiency in type 1 diabetes mellitus and healthy children.

Epidemiological studies suggest a link between vitamin D deficiency in early life and the later onset of type 1 diabetes. The aim of this matched case-control study was to find the association between vitamin D and T1DM then to study the difference in the level of vitamin D in T1DM and healthy subjects, and to determine the associated environmental risk factors in young Qatari population. The study was carried out among T1DM children and healthy subjects below 16 years at the pediatric endocrinology outpatient clinics of the Hamad General Hospital and the Primary Health care Clinics (PHCs). The survey was conducted over a period from 6 August to 25 December 2007. The subjects were Qatari nationals male and female aged below 16 years. The study is based on matching by age, gender and ethnicity of 170 cases with those of 170 controls. Face-to-face interviews were based on a questionnaire that included variables such as socio-demographic information, assessment of non-dietary covariates, assessment of dietary intake, vitamin D intake, type of feeding, clinical manifestations and laboratory investigations. Their health status was assessed by medical conditions, family history, BMI, past or present clinical manifestations, 25 (OH)D, Calcium, alkaline phosphatase, phosphorus, HbA1C, PTH, Mg and creatinine analysis. The study revealed that vitamin D deficiency was considerably higher in T1DM children (90.6%) compared to non-diabetic children (85.3%). There was a significant difference found in the mean value of vitamin D between T1DM and non-diabetic children (P = 0.009). There were statistically significant differences between type 1 diabetic and healthy subjects with respect to the occupation of parents (P < 0.001) and consanguinity rate (P < 0.047). Family history of vitamin D deficiency was considerably higher among T1DM children (35.3%) with a significant difference between diabetic and non-diabetic children (22.9) (P < 0.012). Vitamin D supplement with breast milk was very poor in diabetic children (37.4%) compared to non-diabetic children (47.7%). Majority of the studied subjects were breast-fed children (95.1% of diabetic children and 97.2% of healthy children). Multivariate logistic regression analysis revealed that fathers and mothers occupation, family history of DM, physical activity, low duration of time under sun light, breast feeding less than 6 months and low vitamin D level were considered as the main factors associated with the T1DM. In conclusion, the present study revealed that vitamin D deficiency was higher in T1DM children compared to non-diabetic. Moreover, vitamin D deficiency was common in Qatari young population. Vitamin D intake was very poor in children and it shows that supplementing infants with vitamin D might be a safe and effective strategy for reducing the risk of T1DM.

Impact of lifestyle and dietary habits on hypovitaminosis D in type 1 diabetes mellitus and healthy children from Qatar, a sun-rich country.

BACKGROUND: There are no population-based studies that have examined the association between vitamin D and type 1 diabetes mellitus (T1DM) and the role of lifestyle habits and dietary factors in young children in the Arabian Gulf and Middle East region. Little data on the intake of these nutrients in Mediterranean countries exist, and predictors of their suboptimal intake are not well defined. OBJECTIVE: The objective of this study was to determine the association between vitamin D status and T1DM and assess the impact of lifestyle and dietary habits on hypovitaminosis D in the young population of the State of Qatar. A matched case-control study was carried out among T1DM children and healthy subjects <16 years of age at the pediatric endocrinology outpatient clinics of the Hamad General Hospital and the primary health care clinics center. The survey was conducted over a period from 6 August to 25 December 2007. The sample included 170 cases and 170 controls matched by age, gender and ethnicity. METHODS: Face to face interviews were based on a questionnaire that included variables such as sociodemographic information, assessment of non-dietary covariates, assessment of dietary intake including vitamin D, type of feeding, clinical manifestations and laboratory investigations. Their health status was assessed by medical conditions, family history, body mass index, past or present clinical manifestations, serum 25(OH) vitamin D, calcium, alkaline phosphates, phosphorus, hemoglobin A1C, parathyroid hormone, magnesium and creatinine analysis. RESULTS: The study revealed that the incidence of severe vitamin D deficiency was considerably higher in T1DM (28.8%) compared with healthy children (17.1%). Although the mean serum level of vitamin D was significantly lower in T1DM children (15.80+/-9.23 ng/ml), compared with nondiabetic children (18.45+/-9.56 ng/ml), both groups belonged to the mild-moderate vitamin D deficiency category. A family history of vitamin D deficiency (35.3%; p=0.012) and diabetes mellitus (56.5%; p<0.001) was significantly higher in diabetic children. More than half of the diabetic (67.1%) and healthy children (51.2%) had no physical activity in their daily life. Both groups (65.9 vs. 62.9%) had very limited exposure to sunlight. Vitamin D supplement intake was very poor in diabetic children compared with healthy children; 60% of diabetic and 40.6% of healthy children never had any vitamin D supplement. The study revealed that vitamin D serum concentration, phosphorus, hemoglobin A1C, magnesium and creatinine show statistically significant differences between T1DM and healthy control subjects. A significant difference was noted between diabetic and healthy children for fractures (p=0.005), weakness (p=0.001) and gastroenteritis (p=0.025). CONCLUSIONS: The present study revealed that vitamin D deficiency is a common problem in Qatari children, but the incidence of vitamin D deficiency becomes very severe in T1DM children, compared with healthy children. This suggests that there is an association between vitamin D deficiency and T1DM. The data show that vitamin D status is dependent on sunshine exposure and dietary vitamin D intake. The results suggest the necessity of nutrition education to promote healthy eating habits among adolescents and their parents.

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.

The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Several genes have been implicated to result in EDS phenotypes. The progeroid type of EDS is characterized by wrinkled, loose skin on the face, curly fine hair, scanty eyebrows and eyelashes, in addition to the classical features of EDS. Here we describe two similarly affected individuals in two sibships of a large consanguineous family from Qatar. DNA samples from affected and unaffected members of the family were analyzed for homozygosity of polymorphic markers associated with genes that have been implicated in EDS. Among 28 markers analyzed, homozygosity was only observed for D5S469 and D5S2111, which were markers for galactosyltransferase-I (B4GALT7) located on chromosome 5q35.2, where the previously reported progeroid-like variant of EDS has been mapped. Exons harboring the coding regions and exon-intron junctions of B4GALT7 were amplified by PCR and examined for mutations. A homozygous misssense C to T substitution at nucleotide 808 in the coding region was discovered in both affected individuals. The carrier parents were heterozygous for this mutation, which was not found among 76 DNA samples from control individuals of the same ethnicity. Segregation of this novel mutation in the family further confirmed the allelic variant and its recessive mode of inheritance in this type of EDS. The C to T substitution results in an arginine to cysteine change at amino acid residue 270 that is located in the catalytically active extracellular C-terminal domain. This change could result in abnormal protein folding and/or aberrant interactions of mutated galactosyltransferase-I with other extracellular matrix proteins leading to the development of a progeroid-like phenotype in affected individuals.